Daw1^b2b1584Clo
Chemically induced Allele Detail

Summary

• Symbol: Daw1^b2b1584Clo
• Name: dynein assembly factor with WDR repeat domains 1; Bench to Bassinet Program (B2B/CVDC), mutation 1584 Cecilia Lo
• MGI ID: MGI:5431501
• Synonyms: Nebulous
• Gene: Daw1 Location: Chr1:83137473-83188295 bp, + strand Genetic Position: Chr1, 42.7 cM, cytoband C5
• Alliance: Daw1^b2b1584Clo page

Mutant 1584-004-LC displays heterotaxy indicated by dextrocardia, right aortic arch, dual IVC and levogastria

Show the 20 phenotype image(s) involving this allele.

Mutation origin

• Strain of Origin: C57BL/6J
• Project Collection: B2B/CvDC

Mutation description

• Allele Type: Chemically induced (ENU)
• Mutation: Undefined
• Mutation details: This ENU-induced mutation was isolated in a screen at the University of Pittsburgh. The molecular lesion is a T to C substitution at coding nucleotide 197 in exon 3 of the cDNA (c.197T>C, NM_027725). This changes the leucine residue to a proline at position 66 of the encoded protein (p.L66P). Additional incidental mutations were detected in sequencing for the causative mutation, Daw1^b2b1584Clo, and may be present in stocks carrying this mutation.

Disease models

Expression

In Structures Affected by this Mutation:

8 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 1 strain available Cell Lines: 0 lines available
• Carrying any Daw1 Mutation: 21 strains or lines available

Notes

Summative Diagnosis:
Laterality defects including situs inversus totalis and heterotaxia with congenital heart disease: dextrocardia, double outlet right ventricle (DORV), possible crisscross heart, and bilateral inferior vena cavae (IVC), and right aortic arch (RAA)
Noncardiac phenotype: Abnormal thoracic and abdominal organ situs anomalies, such as dextrogastria, malaligned sternal vertebra, liver isomerism, left lung isomerism, and hypoplastic spleen/asplenia. Airway cilia were slow and dyskinetic

Phenotypic Similarity to Human Syndrome: Kartagener's Syndrome, Primary Ciliary Dyskinesia, Heterotaxy

Fyler Codes
The Fyler code developed by The Boston Children's Heart Foundation in Boston Children's Hospital provides a hierarchical clinical diagnosis of congenital cardiovascular defects and other disorders. These codes are used to delineate pathology in the mutant mouse models that parallel human disease and can be cross referenced to the International Pediatric and Congenital Cardiac Code (IPCCC) (http://www.ipccc.net/).

Fyler Codes	Code Description
181	Crisscross Atrioventricular Valves
100	Situs inversus totalis
110	Dextrocardia
190	Heterotaxy Syndrome
2700	Abnormal aortic arch
2720	Right aortic arch
2810	Inferior vena cava anomaly
3804	Congenital heart disease
3817	Abdominal situs ambiguous (abdominal heterotaxy)
4100	Skeletal, skin, muscle anomaly
4239	Left bronchial isomerism
4447	Hepatic malformation
4771	Asplenia
4851	Kartagener syndrome (siewart syndrome)(primary ciliary dyskinesia)
4906	Non-cardiac abnormality
4907	Non-cardiac thoracic abnormality
600	Double outlet right ventricle
606	DORV + AVSD (AV canal)

References

• Original: J:175213 Lo C, Information submitted by the NHLBI Cardiovascular Development Consortium (CvDC), Bench to Bassinet Program (B2B/CvDC). MGI Direct Data Submission (B2B/CvDC). 2011-09-12
• All: 3 reference(s)